ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.274C>T (p.Arg92Trp)

gnomAD frequency: 0.00001  dbSNP: rs1436757161
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001881960 SCV002163755 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-09-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with West syndrome (Invitae). This sequence change replaces arginine with tryptophan at codon 92 of the GRIN2B protein (p.Arg92Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan.
Ambry Genetics RCV002553607 SCV003626361 uncertain significance Inborn genetic diseases 2022-07-27 criteria provided, single submitter clinical testing The c.274C>T (p.R92W) alteration is located in exon 2 (coding exon 1) of the GRIN2B gene. This alteration results from a C to T substitution at nucleotide position 274, causing the arginine (R) at amino acid position 92 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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